Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Qazi Markouizos syndrome |
Dysharmonic skeletal maturation - muscular fibre d..
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A syndrome that is characterized by hypotonia, con..[+]
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fibular hypoplasia and complex brachydactyly |
Du Pan syndrome; acromesomelic dysplasia-2B
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An acromesomelic dysplasia that is characterized b..[+]
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Ehlers-Danlos syndrome spondylodysplastic type 2 |
defective biosynthesis of proteodermatan sulfate; ..
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An Ehlers-Danlos syndrome that is characterized by..[+]
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tricuspid valve disease |
disease of tricuspid valve; RH. tricuspid valve di..
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A heart valve disease that is characterized by val..[+]
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generalized dystonia |
A dystonia that affects most or all of the body.
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reticular dysgenesis |
De Vaal disease; aleukocytosis
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A severe combined immunodeficiency that is the mos..[+]
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body dysmorphic disorder |
A somatoform disorder that involves an excessive c..[+]
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amyotrophic lateral sclerosis type 4 |
distal hereditary motor neuropathy with pyramidal ..
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An amyotrophic lateral sclerosis with juvenile ons..[+]
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Cogan syndrome |
diffuse interstitual keratitis; Cogan's syndrome
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An eye disease characterized by nonsyphilitic inte..[+]
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3-M syndrome |
dolichospondylic dysplasia; gloomy face syndrome; ..
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A syndrome characterized by dwarfism, facial dysmo..[+]
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Simpson-Golabi-Behmel syndrome type 1 |
DGSX Golabi-Rosen syndrome; Sara Angers syndrome; ..
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A syndrome characterized by pre- and postnatal ove..[+]
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ptosis |
drooping eyelid; blepharoptosis
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An eye disease characterized by the drooping or fa..[+]
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peeling skin syndrome |
deciduous skin; familial continuous skin peeling s..
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A skin disease that is characterized by the painle..[+]
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agnathia-otocephaly complex |
dysgnathia complex agnathia-holoprosencephaly; hol..
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A physical disorder characterized by mandibular hy..[+]
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chromosome 13q14 deletion syndrome |
deletion 13q14
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A chromosomal deletion syndrome that is characteri..[+]
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chromosome 15q26-qter deletion syndrome |
A chromosomal deletion syndrome that is characteri..[+]
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1 articles | ||
chromosome 16p11.2 deletion syndrome, 220-kb |
distal 16p11.2 microdeletion syndrome
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A chromosomal deletion syndrome that is characteri..[+]
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chromosome 18p deletion syndrome |
De Grouchy syndrome; 18p- syndrome; monosomy 18p
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 18q deletion syndrome |
deletion 18q; 18q- syndrome; monosomy 18q
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 1p36 deletion syndrome |
deletion 1p36; 1p36 deletion syndrome; monosomy 1p..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 22q11.2 deletion syndrome, distal |
A chromosomal deletion syndrome that has_material_..[+]
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1 articles | ||
3p deletion syndrome |
distal monosomy 3p; chromosome 3pter-P25 deletion ..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 6pter-p24 deletion syndrome |
distal monosomy 6p; 6p25 microdeletion syndrome; 6..
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A chromosomal deletion syndrome that has_material_..[+]
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chromosome 16p13.3 duplication syndrome |
A chromosomal duplication syndrome that has_materi..[+]
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chromosome 22q11.2 microduplication syndrome |
duplication 22q11.2; 22q11.2 microduplication synd..
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A chromosomal duplication syndrome that has_materi..[+]
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lysinuric protein intolerance |
dibasic amino aciduria II; hyperdibasic aminoacidu..
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An amino acid metabolic disorder characterized by ..[+]
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Feingold syndrome |
digital anomalies with short palpebral fissures an..
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A syndrome characterized by variable combinations ..[+]
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zebrafish allergy |
Danio rerio allergy
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A fish allergy triggered by Danio rerio.
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isolated anhidrosis with normal sweat glands |
Dann-Epstein-Sohar syndrome
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An anhidrosis that has_material_basis_in homozygou..[+]
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NGLY1-deficiency |
deficiency of N-glycanase 1; congenital disorder o..
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A carbohydrate metabolic disorder that is characte..[+]
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torsion dystonia 1 |
dystonia musculorum deformans
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A generalized dystomia characterized by autosomal ..[+]
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Pendred Syndrome |
deafness with goiter; congenital hypothyroidism du..
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A syndrome characterized by bilateral prelingual s..[+]
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4 articles | |
basal laminar drusen |
drusen of bruch membrane; cuticular drusen; early ..
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A retinal drusen characterized by yellow-white dep..[+]
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autosomal dominant Robinow syndrome 2 |
DRS2
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A Robinow syndrome characterized by autosomal domi..[+]
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autosomal dominant Robinow syndrome 1 |
DRS1
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A Robinow syndrome characterized by autosomal domi..[+]
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1 articles | |
autosomal dominant Robinow syndrome 3 |
DRS3
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A Robinow syndrome characterized by autosomal domi..[+]
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multiple types of congenital heart defects 6 |
dextro-looped transposition of the great arteries ..
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A congenital heart disease that is characterized b..[+]
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1 articles | |
microvillus inclusion disease |
A congenital diarrhea characterized by onset of in..[+]
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congenital diarrhea 5 with tufting enteropathy |
DIAR5; congenital familial intractable diarrhea wi..
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A congenital diarrhea characterized by intractable..[+]
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congenital secretory sodium diarrhea 8 |
DIAR8
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A secretory diarrhea that has_material_basis_in ho..[+]
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hypomyelinating leukodystrophy 7 |
dentoleukoencephalopathy; ataxia-delayed dentition..
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A hypomyelinating leukodystrophy characterized by ..[+]
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septooptic dysplasia |
De Morsier syndrome; SOD; septo-optic dysplasia
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A syndrome characterized by the classical triad of..[+]
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isolated growth hormone deficiency type IB |
dwarfism of Sindh; congenital IGHD type IB; congen..
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An isolated growth hormone deficiency characterize..[+]
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Parkinson's disease 14 |
Dystonia-Parkinsonism Adult-Onset; autosomal reces..
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A late-onset Parkinson disease that has_material_b..[+]
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autosomal dominant dyskeratosis congenita 1 |
Dyskeratosis Congenita, Scoggins Type; DKCA1
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal recessive dyskeratosis congenita 1 |
DKCB1
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal dominant dyskeratosis congenita 2 |
DKCA2
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal recessive dyskeratosis congenita 2 |
DKCB2
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal dominant dyskeratosis congenita 3 |
DKCA3
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal recessive dyskeratosis congenita 3 |
DKCB3
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A dyskeratosis congenita that has_material_basis_i..[+]
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